中国汉族人群CXCR5单核苷酸多态性与NMOSD的相关性  

Chemokine receptor-5 polymorphisms and the risk of neuromyelitis optica spectrum disorders in Han Chinese population

作　　者：谢璟璐 连志云[1] 刘举[1] 陈虹西 张勤[1] 石紫燕 姚绍莉 周红雨[1] XIE Jinglu;LIAN Zhiyun;LIU Ju;CHEN Hongxi;ZHANG Qin;SHI Ziyan;YAO Shaoli;ZHOU Hongyu(Department of Neurology,West China Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院神经内科,610041

出　　处：《中国神经免疫学和神经病学杂志》2018年第3期164-169,共6页Chinese Journal of Neuroimmunology and Neurology

基　　金：国家自然科学基金资助项目(编号81271321);四川省科技厅研究项目(编号2013FZ0015)

摘　　要：目的探讨中国汉族人群中趋化因子受体5(CXCR5)基因单核苷酸多态性(single nucleotide polymorphism,SNP)与视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSD)发病的相关性。方法纳入312例NMOSD患者以及487名年龄、性别相匹配的健康对照人群(HCs)。从基因数据库中选出9个CXCR5基因多态性位点(rs11574667、rs523604、rs118182497、rs1623316、rs78146216、rs497916、rs598207、rs676925、rs581063),另一个位点rs10892301来源于系统性红斑狼疮(SLE)的研究。通过对2组等位基因、基因型频率及单倍型分析来探讨CXCR5基因SNP与NMOSD易感性的相关性。结果 NMOSD组与HCs性别构成及年龄比较差异无统计学意义(均P>0.05)。等位基因关联分析提示rs11574667的次等位基因C与NMOSD易感性相关(OR=1.33,95%CI:1.01~1.75,P=0.03),经矫正性别及年龄的Logistic回归分析结果显示,加性、显性及隐形模型中10个SNPs均与NMOSD易感性无关(P>0.05)。单倍型分析提示rs1574667-rs523604-rs118182497的单倍型C-G-G与NMOSD易感性相关(OR=1.50,95%CI:1.00~2.23,P=0.046)。结论中国汉族人群中CXCR5SNP rs11574667的次等位基因C及rs1574667-rs523604-rs118182497的单倍型CG-G与NMOSD易感性相关。有关两者间确切关系尚需进一步研究。Objective To investigate the genetic association between chemokine receptor-5（CXCR5）polymorphisms and neuromyelitis optica spectrum disorders（NMOSD）in a Han Chinese population.MethodsWe prospectively consecutively collected 312 patients with NMOSD,as well as 487 age-sex matched healthy controls（HCs）.Ten single nucleotide polymorphisms（SNPs）were selected from 1000 Genomes Project（1 KGP） database,including rs11574667,rs523604,rs118182497,rs1623316,rs78146216,rs497916,rs598207,rs676925,and rs581063.In addition,a SNPs named rs10892301 was selected from a previous study of another autoimmune disease SLE.The correlation between the CXCR5 SNPs and the susceptibility of NMOSD was investigated by analyzing the alleles,genotype frequencies and haplotypes of these two groups.ResultsThere was no significant difference in gender or age between the patients and the HCs（Both P〈0.05）.The allelic association analysis suggested that the minor allele C of rs11574667 was associated with the increased risk of NMOSD（OR=1.33,95%CI：1.01-1.75,P=0.03）.The logistic regression analyses adjusted by gender and age indicated that none of the SNPs was associated with the increased risk of NMOSD under additive,dominant or recessive model（P〈0.05）.Haplotype analysis showed that C-G-G of rs1574667-rs523604-rs118182497 was associated with the risk of NMOSD（OR = 1.50,95% CI：1.00-2.23,P = 0.046）.Conclusions Our study may suggest that the minor allele C of rs11574667 and haplotype C-G-G of rs1574667-rs523604-rs118182497 were associated with the risk of NMOSD.Further study is needed on the exact relationship between CXCR5 SNPs and NMOSD.

关 键 词：视神经脊髓炎谱系疾病 受体 趋化因子 多态性 单核苷酸 自身免疫疾病 

分 类 号：R744.5[医药卫生—神经病学与精神病学]